Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mirja ThomsenKatrin MarthSebastian LoensJudith EverdingJohanna JunkerFriederike BorngräberFabian OttSilvia JesúsMathias GelderblomThorsten OdorferGregor KuhlenbäumerHan-Joon KimEva SchaefferJos BecktepeMeike KastenNorbert BrüggemannRobert PfisterKatja KolleweJoachim K KraussEbba LohmannFrauke HinrichsDaniela BergBeom Seok JeonHauke BuschEckart AltenmüllerPablo MirChristoph KammJens VolkmannSimone ZittelAndreas FerbertKirsten E ZeunerArndt RolfsPeter BauerAndrea A KühnTobias BäumerChristine KleinKatja LohmannPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. For DYT-KMT2B, the recently described episignature served as a reliable readout to determine the functional effect of newly identified variants. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.